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Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome.
Leoni, Chiara; Viscogliosi, Germana; Onesimo, Roberta; Verdolotti, Tommaso; Biagini, Tommaso; Mazza, Tommaso; De Luca, Alessandro; Perri, Lucrezia; Trevisan, Valentina; Flex, Elisabetta; Tartaglia, Marco; Zampino, Giuseppe.
Afiliação
  • Leoni C; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Viscogliosi G; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Onesimo R; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Verdolotti T; UOC Radiologia e Neuroradiologia, Dipartimento di Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Biagini T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
  • Mazza T; Laboratory of Bioinformatics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
  • De Luca A; Medical Genetics Division, IRCCS Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
  • Perri L; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Trevisan V; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
  • Flex E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome (RM), Italy.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome (RM), Italy.
  • Zampino G; Department of Woman and Child Health and Public Health, Center for Rare Diseases and Birth Defects, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome (RM), Italy.
Clin Genet ; 104(1): 136-138, 2023 07.
Article em En | MEDLINE | ID: mdl-36757675
ABSTRACT
Noonan syndrome (NS) belongs to RASopathies, a family of disorders caused by unregulated signaling through the RAS-MAPK pathway. Herein, we report on an individual with molecularly confirmed diagnosis of NS showing asymptomatic enlarged spinal nerve roots, which are distinctive features of neurofibromatosis type 1. To date, a total of 16 patients with neurogenic tumors resembling neurofibromas/schwannomas and a molecularly confirmed diagnosis of a non-NF1 RASopathy have been reported, adding this further feature shared among RASopathies.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibromatoses / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibromatoses / Síndrome de Noonan Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Clin Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália